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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.V307L

APOA4

219 papers

RefSeq Summary

Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue pr...

Pfam Domains

Apolipoproteinaa 61–250UCSCApolipoprotein A1/A4/E domain

Apolipoproteinaa 244–393UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein A4

HGNC Previous Name

apolipoprotein A-IV

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:116821139 C>G

NM_000482.4

p.V307L

c.919G>C

Apolipoprotein

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=38, hom=0)19 overlapping SVs

Surrounding Variants

1 paper

chr11:116821139 C>A

NM_000482.4

p.V307L

c.919G>T

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821139 C>T

NM_000482.4

p.V307M

c.919G>A

Apolipoprotein

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=5, hom=0)19 overlapping SVs

1 paper

chr11:116821136 C>G

NM_000482.4

p.E308Q

c.922G>C

Apolipoprotein

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 overlapping SVs

2 papers

chr11:116821142 G>A

NM_000482.4

p.R306W

c.916C>T

Apolipoprotein

Exome: 0.0% (AC=86, hom=0)Genome: 0.0% (AC=10, hom=0)19 overlapping SVs

1 paper

chr11:116821144 C>T

NM_000482.4

p.R305H

c.914G>A

Apolipoprotein

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=32, hom=0)19 overlapping SVs

3 papers

chr11:116821145 G>A

NM_000482.4

p.R305C

c.913C>T

Apolipoprotein

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=7, hom=0)19 overlapping SVs

1 paper

chr11:116821133 G>A

NM_000482.4

p.P309S

c.925C>T

Apolipoprotein

Exome: n/aGenome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821145 G>T

NM_000482.4

p.R305S

c.913C>A

Apolipoprotein

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

1 paper

chr11:116821147 C>T

NM_000482.4

p.R304Q

c.911G>A

Apolipoprotein

Exome: 0.0% (AC=275, hom=0)Genome: 0.0% (AC=11, hom=0)19 overlapping SVs

2 papers

chr11:116821148 G>A

NM_000482.4

p.R304*

c.910C>T

Apolipoprotein

Exome: 0.0% (AC=96, hom=0)Genome: 0.0% (AC=14, hom=0)19 overlapping SVs

1 paper

chr11:116821149 G>C

NM_000482.4

p.F303L

c.909C>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821149 G>T

NM_000482.4

p.F303L

c.909C>A

Apolipoprotein

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

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